Varaico: Literature-Extracted Genetic Variants

Gene:UFC1
Variant:p.L32_K33delFs

UFC1

52 papers

RefSeq Summary

UFC1 is an E2-like conjugating enzyme for ubiquitin-fold modifier-1 (UFM1; MIM 610553) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Mar 2008].

Pfam Domains

UFC1aa 6–160UCSCUbiquitin-fold modifier-conjugating enzyme 1

Gene Aliases

HGNC Name

ubiquitin-fold modifier conjugating enzyme 1

HGNC Alias Symbol

HSPC155

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016406.4
p.L32_K33delFs
c.96_97delGA
Surrounding Variants
1 paper
NM_016406.4
p.L32R
c.95T>G
1 paper
NM_016406.4
p.L32L
c.96G>A
1 paper
NM_016406.4
p.K33M
c.98A>T
1 paper
NM_016406.4
p.E35*
c.103G>T
1 paper
NM_016406.4
p.Y36N
c.106T>A
1 paper
NM_016406.4
p.Y36C
c.107A>G
8 papers
NM_016406.4
p.R23Q
c.68G>A
1 paper
NM_016406.4
p.R23L
c.68G>T
1 paper
NM_016406.4
p.R23_D24delFs
c.67_70del4
1 paper
NM_016406.4
p.T18A
c.52A>G
1 paper
NM_016406.4
p.V10G
c.29T>G
1 paper
NM_016406.4
p.V10_S11delFs
c.30_31delGT
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